Case Report: Diagnostic odyssey in rare diseases: when genetic variants are misinterpreted

IntroductionThe diagnostic odyssey in rare diseases often involves the misinterpretation of genetic data, particularly when multidisciplinary approaches are lacking. This study illustrates the critical process of interpreting variants from next-generation sequencing (NGS) through a real-life case of...

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Principais autores:	Minerva Montero-Hernández, Nahuel Pérez-Moix, María-Carmen Carrascosa-Romero, María-Pilar López-Garrido, Francisco Sánchez-Sánchez
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2026-04-01
coleção:	Frontiers in Pediatrics
Assuntos:	diagnostic odyssey Marfan syndrome misdiagnosis MYH11 precision medicine rare diseases
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fped.2026.1803924/full
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